Results 161 to 170 of about 62,040 (267)

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, Volume 67, Issue 7, Page 3629-3643, July 2026.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Early Incarcerated Hernia at an 8-mm Robotic Port Site After Robot-Assisted Ileocecal Resection: A Case Report. [PDF]

Cureus
Makiyama T, Hirata A, Shiraishi T, Okada K, Maruyama T, Tochigi T, Ohira G, Maruyama M.   +7 more
europepmc   +1 more source

A Student‐Led Tele‐Expiratory Muscle Strength Training (EMST) Program for Head and Neck Cancer (HNC) Survivors—A Pilot Implementation Study

Head &Neck, Volume 48, Issue 7, Page 1822-1829, July 2026.
ABSTRACT Background Expiratory muscle strength training (EMST) is a non‐invasive, evidence‐based treatment that is used to improve swallowing in head and neck cancer (HNC) survivors. This prospective, pilot implementation study evaluated the feasibility, acceptability, and potential clinical effectiveness of a novel student‐led tele‐EMST program for ...
Katrina Blyth, Jessica Tam, Rachelle Robinson, Danielle Stone, Emma S. Wallace   +4 more
wiley   +1 more source

Laparoscopic transabdominal retromuscular repair with hernia sac-assisted mesh coverage for incisional ventral hernia: a prospective case series with preliminary outcomes. [PDF]

J Minim Invasive Surg
Saini V, Singh MP, Kumar P, Kalpana CBD, Patodia TR.   +4 more
europepmc   +1 more source

Laparoscopic Repair of an Incarcerated Parahiatal Hernia with Gastric Necrosis: A Rare Case Report. [PDF]

Surg Case Rep
Mitta K, Tsuji T, Kobori R, Kubo H, Takenaka S, Tanaka H, Machi R, Saito H, Doden K, Sakimura Y, Saito H, Yamamoto D, Moriyama H, Kinoshita J, Inaki N.   +14 more
europepmc   +1 more source

Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic   +5 more
wiley   +1 more source

Gastroparesis syndrome following thoracoscopic diaphragmatic hernia repair in a pediatric patient: a case report and literature review. [PDF]

Front Pediatr
Tianyi Z, Xiwei H, Zhong J, Chuantao R, Huanyu Z, Cong S, Qian D, Jie M.   +7 more
europepmc   +1 more source

Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke   +5 more
wiley   +1 more source

Case Report: Strangulated transverse colon inguinal hernia complicated by cecal perforation in a patient with sclerosing mesenteritis. [PDF]

Front Surg
Chang YY, Hu JM, Chiu YC.
europepmc   +1 more source

Recipient Vessel Selection in Free Flap Phalloplasty: A Systematic Review and Single‐Arm Meta‐Analysis

Microsurgery, Volume 46, Issue 5, July 2026.
ABSTRACT Background Selection of recipient vessels in phalloplasty is challenging due to the absence of adequate vessels in the immediate proximity. There is no consensus on the appropriate vessel selection. We hypothesized that recipient vessel selection in phalloplasty is associated with differences in complications and flap survival.
James Gaston, R'ay Fodor, Antonio Rampazzo, Michele Fascelli, Bahar Bassiri Gharb   +4 more
wiley   +1 more source